EBISPOT / xgwas-curator-tasks

An internal repo for GWAS curators to track issues
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Investigate possible curation error in PMID 30894546 #31

Open eks-ebi opened 3 months ago

eks-ebi commented 3 months ago

A user has identified a possible error in this publication - effect and other alleles may be flipped.

See ticket in RT: http://helpdesk.ebi.ac.uk/Ticket/Display.html?id=736387

Actually, I wanted to bring something else to your attention that we discovered about a year ago. Regarding the paper, “Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density”, the alleles in the GWAS entry GCST008339 seem to be backwards, with “Risk allele” in GWAS catalog corresponding to “Other allele” in Supplementary Table 5 while the beta values are the same sign. Here is a small sample of those SNPs but the problem seems to persist for all SNPs in this entry.

image001.png

Search UI page: https://www.ebi.ac.uk/gwas/publications/30894546